T594S Summary

SCN5A T594S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T594S is not present in gnomAD. T594S has been functionally characterized in 0 papers. Other variants at the same resdue are T594A .T594E .T594I .T594N .T594P .T594S .T594S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T594S Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.37

T594S has 30 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
579 14.7 G579R G579R
580 14.2
581 13.7 S581L
582 13.2
583 12.6
584 12 G584R
585 11.4
586 10.7 A586T
587 10.1
588 9.3
589 8.5
590 7.6
591 6.6
592 5.4 N592K N592K N592S
593 3.8
595 3.8
596 5.4
597 6.6
598 7.6
599 8.5 G599R G599R
600 9.3
601 10.1
602 10.7
603 11.4
604 12 L604V
605 12.6
606 13.2
607 13.7 G607V
608 14.2 D608N
609 14.7